GeneScribe AI – Detection of DNA Mutations via Reference and Sample Sequence Comparison

Advances in genomics and bioinformatics have revolutionized the detection ofDNA mutations, enabling precise identification of genetic variations linked todiseases, drug resistance, and evolutionary studies. Traditional mutationdetection methods, such as Sanger sequencing and PCR-based techniques, aretime-consuming and often lack scalability for high-throughput analysis. Nextgeneration sequencing (NGS) has improved mutation detection but generatesvast amounts of data that require sophisticated computational tools for accurateinterpretation.GeneScribe AI is an advanced artificial intelligence (AI)-powered bioinformaticstool designed to automate and enhance the detection of DNA mutations bycomparing sample sequences against a reference genome. By leveraging machinelearning (ML) algorithms, alignment optimization, and statistical validation,GeneScribe AI achieves high accuracy in identifying single nucleotidepolymorphisms (SNPs), insertions, deletions (indels), and structural variants (SVs).

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-07-15
DOI
https://doi.org/10.5281/zenodo.15895037
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

GeneScribe AI – Detection of DNA Mutations via Reference and Sample Sequence Comparison

Zenodo (CERN European Organization for Nuclear Research)
Genomics and Rare Diseases
article

GeneScribe AI – Detection of DNA Mutations via Reference and Sample Sequence Comparison

article en

Abstract

Advances in genomics and bioinformatics have revolutionized the detection ofDNA mutations, enabling precise identification of genetic variations linked todiseases, drug resistance, and evolutionary studies. Traditional mutationdetection methods, such as Sanger sequencing and PCR-based techniques, aretime-consuming and often lack scalability for high-throughput analysis. Nextgeneration sequencing (NGS) has improved mutation detection but generatesvast amounts of data that require sophisticated computational tools for accurateinterpretation.GeneScribe AI is an advanced artificial intelligence (AI)-powered bioinformaticstool designed to automate and enhance the detection of DNA mutations bycomparing sample sequences against a reference genome. By leveraging machinelearning (ML) algorithms, alignment optimization, and statistical validation,GeneScribe AI achieves high accuracy in identifying single nucleotidepolymorphisms (SNPs), insertions, deletions (indels), and structural variants (SVs).

Zenodo (CERN European Organization for Nuclear Research)
Openalex Percentile: Top 54%
Genomics and Rare Diseases
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